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  • New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

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Medical genetics in practice
New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype
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Authors

  1. Correspondence to:
 Dr Virginia Nunes
 Centre de Genética Mèdica i Molecular (IRO-IDIBELL), Hospital Duran i Reynals, Gran Via Km 2.7, s/n, L’Hospitalet de Llobregat, Barcelona E-08907, Spain; vnunesiro.es
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Citation

Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, et al
New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype
Journal of Medical Genetics 2005;42:58-68.

Publication history

  • Received September 3, 2004
  • Accepted September 8, 2004
  • First published January 5, 2005.
Online issue publication 
January 05, 2005

  • Web-only Tables and Figures

    The tables and figures are available as downloadable PDFs (printer friendly files).

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    Files in this Data Supplement:

    • [View PDF] - Table 1s Primers used to amplify the SLC7A9 exons for DHPLC analysis
    • [View PDF] - Table 2s Primers used to amplify the SLC7A9 exons together with the external double dose control DSCR1 gene
    • [View PDF] - Table 3 Cystinuria-specific mutated alleles identified in the 164 probands studied of the International Cystinuria Consortium (ICC) database
    • [View PDF] - Figure 1s Semi-quantitative Multiplex PCR analysis of SLC7A9 in controls
    • [View PDF] - Figure 2s Genomic region of SLC7A9 rearranged in patients with the 5 kb deletion and the 5 kb duplication
    • [View PDF] - Figure 3s Results of two semi-quantitative multiplex PCR analysis in families 73 and 94

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Copyright 2005 Journal of Medical Genetics